Human Genome Epidemiology Literature Finder
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Records 1 - 8 (of 8 Records) |
| Query Trace: Disease and CPT2[original query] |
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| High frequency of ETFDH c.250G>A mutation in Taiwanese patients with late-onset lipid storage myopathy. Clinical genetics 2010 Dec 78 (6): 565-9. Lan M-Y, Fu M-H, Liu Y-F, Huang C-C, Chang Y-Y, Liu J-S, Peng C-H, Chen S |
| Genetic evaluation of AMPD1, CPT2, and PGYM metabolic enzymes in patients with chronic fatigue syndrome. Genetics and molecular research : GMR 2016 15 (3): . Maltese P E, Venturini L, Poplavskaya E, Bertelli M, Cecchin S, Granato M, Nikulina S Y, Salmina A, Aksyutina N, Capelli E, Ricevuti G, Lorusso |
| Exome-Based Rare-Variant Analyses in CKD. Journal of the American Society of Nephrology : JASN 2019 May . Cameron-Christie Sophia, Wolock Charles J, Groopman Emily, Petrovski Slavé, Kamalakaran Sitharthan, Povysil Gundula, Vitsios Dimitrios, Zhang Mengqi, Fleckner Jan, March Ruth E, Gelfman Sahar, Marasa Maddalena, Li Yifu, Sanna-Cherchi Simone, Kiryluk Krzysztof, Allen Andrew S, Fellström Bengt C, Haefliger Carolina, Platt Adam, Goldstein David B, Gharavi Ali |
| Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD. Molecular genetics and metabolism 2020 9 131 (1-2): 90-97. Elizondo Gabriela, Matern Dietrich, Vockley Jerry, Harding Cary O, Gillingham Melanie |
| Whole-exome sequencing in a family with a monozygotic twin pair concordant for schizophrenia and a follow-up case-control study of identified de-novo variants. Psychiatric genetics 2020 2 30 (2): 60-63. Hoya Satoshi, Watanabe Yuichiro, Nunokawa Ayako, Otsuka Ikuo, Shibuya Masako, Igeta Hirofumi, Hishimoto Akitoyo, Someya Toshiyu |
| Mitochondrial molecular genetic results in a South African cohort: divergent mitochondrial and nuclear DNA findings. Journal of clinical pathology 2020 10 75 (1): 34-38. Meldau Surita, Owen Elizabeth Patricia, Khan Kashief, Riordan Gillian Tra |
| Increased Cancer Prevalence in Peripartum Cardiomyopathy. JACC. CardioOncology 2021 8 1 (2): 196-205. Pfeffer Tobias J, Schlothauer Stella, Pietzsch Stefan, Schaufelberger Maria, Auber Bernd, Ricke-Hoch Melanie, List Manuel, Berliner Dominik, Abou Moulig Valeska, König Tobias, Arany Zolt, Sliwa Karen, Bauersachs Johann, Hilfiker-Kleiner Deni |
| Newborn Screening for Mitochondrial Carnitine-Acylcarnitine Cycle Disorders in Zhejiang Province, China. Frontiers in genetics 2022 4 13 823687. Zhou Duo, Cheng Yi, Yin Xiaoshan, Miao Haixia, Hu Zhenzhen, Yang Jianbin, Zhang Yu, Wu Benqing, Huang Xinw |
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